Arrhythmogenic Right Ventricular Cardiomyopathy - AVRC

A cause of sudden death in young athletes

echocardiogram and ECG
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Arrhythmogenic right ventricular cardiomyopathy (AVRC) is a genetic condition that causes the replacement of cardiac muscle with fibrous, fatty tissue. It affects mainly the right ventricle. The chief significance of AVRC is that it can produce potentially dangerous cardiac arrhythmias. (Note: AVRC used to be called “arrhythmogenic right ventricular dysplasia.”)

    AVRC is uncommon, but not rare. It can be found in one of every 2000 to 5000 adults if you look for it. However, the only time the public generally hears about AVRC is when a young athlete dies suddenly, since AVRC is one of the cardiac conditions associated with sudden death in young athletes.

    What Are the Symptoms of AVRC?

    While AVRC is a cardiomyopathy - that is, a heart muscle disease - it only rarely produces heart failure. Rather, its clinical significance is that it is associated with cardiac arrhythmias - in particular, premature ventricular complexes, ventricular tachycardia, and sometimes ventricular fibrillation.

    Thus, the symptoms of AVRC are caused by the arrhythmias it may produce. Patients with AVRC will commonly describe episodes of palpitations, lightheadedness, or syncope. Unfortunately, sudden death may also occur, and even more unfortunately, sudden death may be the very first manifestation of the disease.

    While sudden death can occur at any time, it is most likely to occur during episodes of physical exertion.

    However, up to 40% of patients with AVRC will have no symptoms whatsoever.

    How Is AVRC Diagnosed?

    Diagnosing AVRT is accomplished by examining the electrocardiogram (which often shows a particular configuration of the QRS complex), an echocardiogram (which often shows characteristic abnormalities in the cardiac muscle of the right ventricle - and sometimes of the left ventricle).

    If the diagnosis remains in doubt, sometimes a cardiac MRI can help pin things down. In most patients genetic testing is not required to make the diagnosis, but it can be helpful.

    Treating AVRC

    The main goal in treating AVRC is to prevent sudden cardiac death from ventricular tachycardia or fibrillation.

    Because sudden death is often associated with exercise in this condition, athletes who have AVRC should refrain from all competitive sports, with the possible exception of low-intensity activities such as golf or bowling. Furthermore, they should refrain from any activity that produces significant palpitations.

    Most cardiologists also recommend the use of beta blockers, to blunt the effect of adrenaline in the heart.

    Implantable defibrillators are strongly recommended for many people with AVRC, in particular, for anyone who has had an episode of cardiac arrest, an episode of sustained ventricular tachycardia, an episode of unexplained syncope, or whose echocardiogram shows extensive involvement of the cardiac muscle.

    For patients with AVRC who have none of these conditions, the risk of sudden death appears low - as long as they follow exercise restrictions and take their beta blockers.

    Sources:

    Ruwald AC, Marcus F, Estes NA 3rd, et al. Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 2015; 36:1735.

    Corrado D, Fontaine G, Marcus FI, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation. Circulation 2000; 101:E101.

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